Incidental Mutation 'R9249:Stard5'
ID 701428
Institutional Source Beutler Lab
Gene Symbol Stard5
Ensembl Gene ENSMUSG00000046027
Gene Name StAR related lipid transfer domain containing 5
Synonyms 18B7-T7(GS), D7Ertd152e, 2310058G22Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9249 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 83281225-83291536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83281253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 2 (D2G)
Ref Sequence ENSEMBL: ENSMUSP00000074872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075418] [ENSMUST00000117410]
AlphaFold Q9EPQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000075418
AA Change: D2G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000074872
Gene: ENSMUSG00000046027
AA Change: D2G

DomainStartEndE-ValueType
START 7 210 8.57e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117410
AA Change: D2G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112781
Gene: ENSMUSG00000046027
AA Change: D2G

DomainStartEndE-ValueType
Pfam:START 7 196 5.9e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol-derived molecules related to the cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal vertebral transverse process morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,220,165 (GRCm39) probably benign Het
Arfgef2 T C 2: 166,733,690 (GRCm39) F1650S probably damaging Het
Bscl2 A T 19: 8,820,378 (GRCm39) D133V probably damaging Het
Cacna1c T C 6: 118,590,288 (GRCm39) Y1564C Het
Ccdc182 T C 11: 88,185,178 (GRCm39) V86A probably benign Het
Cd44 T G 2: 102,661,747 (GRCm39) T616P possibly damaging Het
Cep152 C T 2: 125,405,904 (GRCm39) E1543K probably benign Het
Chpf2 C A 5: 24,794,235 (GRCm39) T135K probably damaging Het
Cntn4 C T 6: 106,466,722 (GRCm39) P208L possibly damaging Het
Col6a3 T A 1: 90,707,020 (GRCm39) Y2638F unknown Het
Csmd2 C A 4: 128,313,323 (GRCm39) Y1333* probably null Het
Cyp3a25 T C 5: 145,928,356 (GRCm39) T230A possibly damaging Het
Dbndd2 T C 2: 164,328,077 (GRCm39) probably benign Het
Ecpas T C 4: 58,869,427 (GRCm39) K280R probably damaging Het
Egfl8 C A 17: 34,833,491 (GRCm39) A133S probably benign Het
Fasn T C 11: 120,703,915 (GRCm39) H1475R probably benign Het
Gdpd5 T C 7: 99,107,989 (GRCm39) L522P probably damaging Het
Gzmd T G 14: 56,368,790 (GRCm39) M35L probably damaging Het
Herc2 T A 7: 55,762,890 (GRCm39) L873Q probably damaging Het
Hsd3b6 T C 3: 98,713,679 (GRCm39) K207E probably benign Het
Ikbkb T A 8: 23,171,735 (GRCm39) K171* probably null Het
Il21 T A 3: 37,279,677 (GRCm39) probably null Het
Itga1 T C 13: 115,185,834 (GRCm39) N56S probably damaging Het
Map1lc3b T C 8: 122,322,833 (GRCm39) probably null Het
Mapk13 A G 17: 28,988,490 (GRCm39) Y36C probably damaging Het
Myh3 C T 11: 66,975,855 (GRCm39) P296S probably benign Het
Myo5a A G 9: 75,097,279 (GRCm39) N1319S possibly damaging Het
Myot T C 18: 44,479,265 (GRCm39) V334A probably benign Het
Ncor2 T C 5: 125,186,988 (GRCm39) E12G unknown Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nphs2 G A 1: 156,144,416 (GRCm39) R140Q probably damaging Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Nvl A G 1: 180,962,593 (GRCm39) Y126H probably damaging Het
Or1j14 T C 2: 36,417,559 (GRCm39) I45T probably damaging Het
Or5w1 A T 2: 87,486,660 (GRCm39) F202I probably benign Het
Or8g29-ps1 T A 9: 39,200,602 (GRCm39) N195Y unknown Het
Or8g36 A T 9: 39,422,149 (GRCm39) I289N probably damaging Het
Osbpl8 T A 10: 111,122,012 (GRCm39) D651E probably benign Het
Papola T A 12: 105,799,403 (GRCm39) H677Q probably benign Het
Pcbp3 T C 10: 76,635,377 (GRCm39) S59G probably benign Het
Pkd1l2 T A 8: 117,746,159 (GRCm39) I1944F probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Polb A T 8: 23,143,084 (GRCm39) N37K probably benign Het
Ppfia2 T C 10: 106,749,429 (GRCm39) V1105A probably damaging Het
Ric3 C T 7: 108,647,212 (GRCm39) D204N probably damaging Het
Scn8a A G 15: 100,914,456 (GRCm39) D1154G probably benign Het
Sdk1 C A 5: 142,129,550 (GRCm39) N1590K probably damaging Het
Sec31a C A 5: 100,533,083 (GRCm39) R163L probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Serpina3i C T 12: 104,231,728 (GRCm39) Q122* probably null Het
Sgo2b A C 8: 64,391,407 (GRCm39) Y153* probably null Het
Sgsm1 T A 5: 113,428,201 (GRCm39) H329L possibly damaging Het
Sh3tc2 A C 18: 62,107,598 (GRCm39) N203T possibly damaging Het
Skint8 C A 4: 111,794,159 (GRCm39) T183K probably damaging Het
Slc6a20a T C 9: 123,507,941 (GRCm39) probably benign Het
Slc8a2 T C 7: 15,891,156 (GRCm39) F732S probably damaging Het
Spata16 T C 3: 26,787,030 (GRCm39) V236A possibly damaging Het
Stk25 T C 1: 93,552,806 (GRCm39) S328G probably benign Het
Tmem39b A T 4: 129,572,468 (GRCm39) M378K probably damaging Het
Tspan10 T C 11: 120,337,051 (GRCm39) F274L probably benign Het
Tssk1 A T 16: 17,712,724 (GRCm39) I170L probably benign Het
Vmn1r6 A G 6: 56,979,760 (GRCm39) R141G probably benign Het
Wdfy3 A G 5: 101,996,359 (GRCm39) S3168P possibly damaging Het
Zfp458 T A 13: 67,405,218 (GRCm39) H407L probably damaging Het
Other mutations in Stard5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Stard5 APN 7 83,282,397 (GRCm39) missense probably damaging 1.00
IGL02100:Stard5 APN 7 83,289,653 (GRCm39) missense possibly damaging 0.71
IGL03374:Stard5 APN 7 83,285,980 (GRCm39) missense possibly damaging 0.83
R0038:Stard5 UTSW 7 83,285,951 (GRCm39) splice site probably benign
R0038:Stard5 UTSW 7 83,285,951 (GRCm39) splice site probably benign
R0631:Stard5 UTSW 7 83,281,965 (GRCm39) missense probably damaging 1.00
R2170:Stard5 UTSW 7 83,282,366 (GRCm39) missense probably benign 0.01
R2995:Stard5 UTSW 7 83,281,951 (GRCm39) missense probably damaging 1.00
R4616:Stard5 UTSW 7 83,282,489 (GRCm39) intron probably benign
R5372:Stard5 UTSW 7 83,282,428 (GRCm39) missense probably damaging 1.00
R5628:Stard5 UTSW 7 83,282,355 (GRCm39) missense probably benign 0.30
R7836:Stard5 UTSW 7 83,285,984 (GRCm39) missense probably damaging 1.00
R9574:Stard5 UTSW 7 83,281,944 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCAGAGATGACGCTTACTGC -3'
(R):5'- AGTGGAATCAGTTTCTCAACCC -3'

Sequencing Primer
(F):5'- ACGGAATTGTCTGAGAGC -3'
(R):5'- TCCAGGGTGCGGATAATCTC -3'
Posted On 2022-03-25